R75K (p.Arg75Lys) variant of IRF7 (Interferon regulatory factor 7)
R75K (p.Arg75Lys) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R75K (p.Arg75Lys) variant details
- p.Arg75Lys
- ExAC rs779855922
- TOPMed rs779855922
- gnomAD rs779855922
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.15
- MetaLR 0.70
- MetaSVM 0.01
- CADD 7.53
- PolyPhen-2 0.02
- SIFT 0.90
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available